ORPHA:522512
Rare genetic optic nerve disorder
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic optic nerve disorder | |
| fr | Maladie génétique rare du nerf optique | |
| de | Seltene genetische Krankheit des Sehnerven | |
| es | Trastorno genético raro del nervio óptico | |
| it | Malattia genetica rara del nervo ottico | |
| nl | Zeldzame genetische aandoening van oogzenuw | |
| pt | Doença do nervo óptico genética rara | |
| pl | Rzadka choroba nerwu wzrokowego uwarunkowana genetycznie | |
| cs | Vzácná genetická porucha zrakového nervu | |
| uk | Рідкісне генетично обумовлене захворювання зорового нерва | |
| zh | 罕见遗传性视神经疾病 | |
| tr | Nadir genetik optik sinir bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681436 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:522510Rare genetic ophthalmic disorder with cranial nerve involvement
rare genetic diseases
Children (8):
- ORPHA:522514Congenital optic disc excavation of genetic origin
- ORPHA:519337Disorder with optic nerve compression
- ORPHA:98671Hereditary optic neuropathy
- ORPHA:637064Isolated optic nerve aplasia
- ORPHA:637061Isolated optic nerve hypoplasia
- ORPHA:519339Pseudopapilledema
- ORPHA:519345Rare disorder with optic disc malformation
- ORPHA:137905Syndromic optic nerve hypoplasia
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522512
- This record as JSON: /data/d/522512.json